CAJ | 학술논문

目的：探讨雌激素受体α基因PvuⅡ和XbaⅠ多态性与特发性性早熟女童的相关性。方法选择2009年6月至2012年6月在江西省妇幼保健院门诊诊断为特发性性早熟（ idiopathic central precocious puberty，ICPP）的女童80例作为研究组；选取同期在儿保科体检且身体健康的女童50例为对照组，应用聚合酶链反应－限制性片段长度多态性（ polymerase chain reaction －restriction fragment length polymorphism，PCR－RFLP）分析技术，检测两组女童雌激素受体α基因PvuⅡ和XbaⅠ遗传多态性。结果两组雌激素受体α基因XbaⅠ酶切位点基因型频率分布比较差异有统计学意义（P＜0.05）；两组等位基因频率的分布比较差异无统计学意义（P＞0.05）；两组PvuⅡ位点的基因型频率及等位基因频率分布比较差异均无统计学意义（P＞0.05）。结论雌激素受体α基因XbaⅠ位点多态性与ICPP存在一定相关性， Xx基因型最易患病，雌激素受体α基因PvuⅡ位点多态性与ICPP的发生无明显关联。
목적：탐토자격소수체α기인PvuⅡ화XbaⅠ다태성여특발성성조숙녀동적상관성。방법선택2009년6월지2012년6월재강서성부유보건원문진진단위특발성성조숙（ idiopathic central precocious puberty，ICPP）적녀동80례작위연구조；선취동기재인보과체검차신체건강적녀동50례위대조조，응용취합매련반응－한제성편단장도다태성（ polymerase chain reaction －restriction fragment length polymorphism，PCR－RFLP）분석기술，검측량조녀동자격소수체α기인PvuⅡ화XbaⅠ유전다태성。결과량조자격소수체α기인XbaⅠ매절위점기인형빈솔분포비교차이유통계학의의（P＜0.05）；량조등위기인빈솔적분포비교차이무통계학의의（P＞0.05）；량조PvuⅡ위점적기인형빈솔급등위기인빈솔분포비교차이균무통계학의의（P＞0.05）。결론자격소수체α기인XbaⅠ위점다태성여ICPP존재일정상관성， Xx기인형최역환병，자격소수체α기인PvuⅡ위점다태성여ICPP적발생무명현관련。
Objective To study the association of estrogen receptor α( ERα) gene PvuⅡ、XbaⅠpolymorphisms with girls with idiopathic central precocious puberty in Jiangxi Province.Methods To selected 80 girls as the study group who accepted the examination and the clinical diagnosis of idiopathic central precocious puberty in the clinic of Jiangxi Provincial Maternal and Child Health Hospital from June 2009 to June 2012 and 50 healthy as the control group who accepted health examination in child care department on the same time.Polymerase chain reaction -restriction fragment length polymorphism( PCR-RFLP) was used to study the ERαgene PvuⅡ、XbaⅠpolymorphisms of the two groups.Results For the XbaⅠpolymorphism,there were significant differences in genotype distribution( P<0.05 ); No significant differences in allele frequency between the two groups ( P>0.05 );The PvuⅡpolymorphism of ERαgene had no statistical significance both in distribution of genotype and allele frequency between the two groups (P >0.05).Conclusion The polymorphisms of XbaⅠERαgene had some relation to girls with idiopathic central precociouspuberty, Girls with Xx genotype were the most susceptible to the disease.The polymorphisms of PvuⅡ ERαgene had no relation togirls with idiopathic central precocious puberty.